This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described.

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Flow cytometric analysis of Hydroxymethylbilane synthase expression in HeLa cells using Hydroxymethylbilane synthase antibody . Green, isotype control; red, Hydroxymethylbilane synthase.

Western blotting analysis using hydroxymethylbilane synthase antibody . Total cell lysates (30 μg) from various cell lines were loaded and separated by SDS-PAGE. The blot was incubated with hydroxymethylbilane synthase antibody and HRP-conjugated goat anti-rabbit secondary antibody respectively. Image was developed using FeQ™ ECL Substrate Kit .

Western blotting analysis using hydroxymethylbilane synthase antibody . Hydroxymethylbilane synthase expression in wild-type (WT) and hydroxymethylbilane synthase (HMBS) shRNA knockdown (KD) HeLa cells with 20 μg of total cell lysates. Hsp90 α serves as a loading control. The blot was incubated with hydroxymethylbilane synthase antibody and HRP-conjugated goat anti-rabbit secondary antibody respectively. Image was developed using NaQ™ ECL Substrate Kit .

Validation of Hydroxymethylbilane synthase knockdown using flow cytometry. Wild-type(WT, Blue) and knockdown(KD, Green) HeLa cells were stained with Hydroxymethylbilane synthase antibody and analyzed using BD flow cytometer.

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